|
DOID:0050763 - ARC syndrome
Disease Ontology Definition:A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3.
Synonyms: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS, Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome, Arthrogryposis-renal dysfunction-cholestasis,
Xenbase Genes
:
vps33b,
vipas39
| MONDO:0017123 - arthrogryposis-renal dysfunction-cholestasis syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)